日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

以复视为首发症状的颅神经受累是 FBLN5 变异复发引起的 CMT1H 的首发特征

Koutsis, Georgios; Kontogeorgiou, Zoi; Tzempetzis, Charalampos; Ragazos, Nikolaos; Efthymiou, Evgenia; Kartanou, Chrisoula; Koniari, Chrysoula; Giagkou, Nikolaos; Chatzistefanou, Klio; Velonakis, Georgios; Karadima, Georgia; Zouvelou, Vasiliki

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

希腊遗传性痉挛性截瘫的遗传图谱

Koutsis, Georgios; Chelban, Viorica; Kartanou, Chrisoula; Kontogeorgiou, Zoi; Koniari, Chrysoula; Ragazos, Nikolaos; Voudommatis, Charalampos; Zhelcheska, Kristina; Lynch, David S; Maroofian, Reza; Barkhordari, Ehsan; Mohammad, Rahema; Zaganas, Ioannis; Drakos, Minas; Xiromerisiou, Georgia; Dardiotis, Efthymios; Stefanis, Leonidas; Panas, Marios; Houlden, Henry; Karadima, Georgia

Genetic Prοpensity for Different Aspects of Dementia Pathology and Cognitive Decline in a Community Elderly Population

社区老年人群中痴呆症病理和认知衰退不同方面的遗传倾向

Sampatakakis, Stefanos N; Mourtzi, Niki; Hatzimanolis, Alex; Koutsis, Georgios; Charisis, Sokratis; Gkelmpesi, Iliana; Mamalaki, Eirini; Ntanasi, Eva; Ramirez, Alfredo; Yannakoulia, Mary; Kosmidis, Mary H; Dardiotis, Efthimios; Hadjigeorgiou, Georgios; Sakka, Paraskevi; Scarmeas, Nikolaos

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease

希腊家族性和散发性帕金森病患者中发现的新型p.A30G SNCA致病变异

Alefanti, Ioanna; Koros, Christos; Tsami, Viktoria; Simitsi, Athina Maria; Kartanou, Chrisoula; Papagiannakis, Nikolaos; Bozi, Maria; Antonelou, Roubina; Maniati, Matina; Hauser, Ann-Kathrin; Varvaressos, Stefanos; Bonakis, Anastasios; Lourentzos, Konstantinos; Makrythanasis, Periklis; Papageorgiou, Sokratis G; Proukakis, Christos; Potagas, Constantinos; Gasser, Thomas; Koutsis, Georgios; Karadima, Georgia; Stefanis, Leonidas

Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity

SPG10的遗传和临床特征:一系列新的致病变异和表型多样性病例

Mansour, Abdallah N; Karadima, Georgia; Koutsis, Georgios; Salloum, Shadi

Partial loss of FITM2 function causes hereditary spastic paraplegia

FITM2功能部分丧失会导致遗传性痉挛性截瘫

Salazar-Villacorta, Ainara; Bond, Laura M; Kim, Leehyeon; Anagnostopoulou, Katherine; Scardamaglia, Annarita; Filippakopoulou, Eugenia; Ververi, Athina; Efthymiou, Stephanie; Dinopoulos, Argirios; Murphy, David; Karadima, Georgia; Koutsis, Georgios; Kaliakatsos, Marios; Houlden, Henry; Walther, Tobias C; Farese, Robert V

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

可变剪接扩大了 NDUFS6 相关线粒体疾病的临床范围

Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, German Moris, Ayşe Ipek Polat, Uluç Yiş, Carmen Espinos, Liedewei Van de Vondel, Els

Cerebral Amyloidosis in Individuals with Subjective Cognitive Decline: From Genetic Predisposition to Actual Cerebrospinal Fluid Measurements

主观认知功能下降患者的脑淀粉样变性:从遗传易感性到实际脑脊液测量

Sampatakakis, Stefanos N; Mourtzi, Niki; Charisis, Sokratis; Kalligerou, Faidra; Mamalaki, Eirini; Ntanasi, Eva; Hatzimanolis, Alex; Koutsis, Georgios; Ramirez, Alfredo; Lambert, Jean-Charles; Yannakoulia, Mary; Kosmidis, Mary H; Dardiotis, Efthimios; Hadjigeorgiou, Georgios; Sakka, Paraskevi; Rouskas, Konstantinos; Patas, Kostas; Scarmeas, Nikolaos

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

由双等位基因PRDX3变异(包括复发性p.Asp202Asn)引起的纯小脑共济失调

Efthymiou, Stephanie; Novis, Luiz E; Koutsis, Georgios; Koniari, Chrysoula; Maroofian, Reza; Turchetti, Valentina; Velonakis, Georgios; Vasconcellos, Luiz F; Raskin, Salmo; Srinivasan, Varunvenkat M; Pagnamenta, Alistair T; Arun, Yaramanchanahalli B; Kinhal, Uddhava V; Gowda, Vykuntaraju K; Teive, Helio A G; Houlden, Henry

A Greek National Cross-Sectional Study on Myotonic Dystrophies

希腊全国强直性肌营养不良症横断面研究

Papadimas, Georgios K; Papadopoulos, Constantinos; Kekou, Kyriaki; Kartanou, Chrisoula; Kladi, Athina; Nitsa, Evangelia; Sofocleous, Christalena; Tsanou, Evangelia; Sarmas, Ioannis; Kaninia, Stefania; Chroni, Elisabeth; Tsivgoulis, Georgios; Kimiskidis, Vasilios; Arnaoutoglou, Marianthi; Stefanis, Leonidas; Panas, Marios; Koutsis, Georgios; Karadima, Georgia; Traeger-Synodinos, Joanne